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Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates

Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have been reported within large low-copy repeats (LCRs). Recently, such a hotspot was identified in patients with the Smith-Magenis syndrome (SMS)...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Shaw, Christine J., Withers, Marjorie A., Lupski, James R.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2004
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182010/
https://ncbi.nlm.nih.gov/pubmed/15148657
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